Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

2.50
Hdl Handle:
http://hdl.handle.net/2336/86468
Title:
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies
Authors:
Rivadeneira, Fernando; Styrkarsdottir, Unnur; Estrada, Karol; Halldorsson, Bjarni V; Hsu, Yi-Hsiang; Richards, J Brent; Zillikens, M Carola; Kavvoura, Fotini K; Amin, Najaf; Aulchenko, Yurii S; Cupples, L Adrienne; Deloukas, Panagiotis; Demissie, Serkalem; Grundberg, Elin; Hofman, Albert; Kong, Augustine; Karasik, David; van Meurs, Joyce B; Oostra, Ben; Pastinen, Tomi; Pols, Huibert A P; Sigurdsson, Gunnar; Soranzo, Nicole; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Williams, Frances M K; Wilson, Scott G; Zhou, Yanhua; Ralston, Stuart H; van Duijn, Cornelia M; Spector, Timothy; Kiel, Douglas P; Stefansson, Kari; Ioannidis, John P A; Uitterlinden, André G
Citation:
Nat. Genet. 2009, 41(11):1199-206
Issue Date:
1-Nov-2009
Abstract:
Bone mineral density (BMD) is a heritable complex trait used in the clinical diagnosis of osteoporosis and the assessment of fracture risk. We performed meta-analysis of five genome-wide association studies of femoral neck and lumbar spine BMD in 19,195 subjects of Northern European descent. We identified 20 BMD loci that reached genome-wide significance (GWS; P < 5 x 10(-8)), of which 13 map to regions not previously associated with this trait: 1p31.3 (GPR177), 2p21 (SPTBN1), 3p22 (CTNNB1), 4q21.1 (MEPE), 5q14 (MEF2C), 7p14 (STARD3NL), 7q21.3 (FLJ42280), 11p11.2 (LRP4, ARHGAP1, F2), 11p14.1 (DCDC5), 11p15 (SOX6), 16q24 (FOXL1), 17q21 (HDAC5) and 17q12 (CRHR1). The meta-analysis also confirmed at GWS level seven known BMD loci on 1p36 (ZBTB40), 6q25 (ESR1), 8q24 (TNFRSF11B), 11q13.4 (LRP5), 12q13 (SP7), 13q14 (TNFSF11) and 18q21 (TNFRSF11A). The many SNPs associated with BMD map to genes in signaling pathways with relevance to bone metabolism and highlight the complex genetic architecture that underlies osteoporosis and variation in BMD.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1038/ng.446

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DC FieldValue Language
dc.contributor.authorRivadeneira, Fernandoen
dc.contributor.authorStyrkarsdottir, Unnuren
dc.contributor.authorEstrada, Karolen
dc.contributor.authorHalldorsson, Bjarni Ven
dc.contributor.authorHsu, Yi-Hsiangen
dc.contributor.authorRichards, J Brenten
dc.contributor.authorZillikens, M Carolaen
dc.contributor.authorKavvoura, Fotini Ken
dc.contributor.authorAmin, Najafen
dc.contributor.authorAulchenko, Yurii Sen
dc.contributor.authorCupples, L Adrienneen
dc.contributor.authorDeloukas, Panagiotisen
dc.contributor.authorDemissie, Serkalemen
dc.contributor.authorGrundberg, Elinen
dc.contributor.authorHofman, Alberten
dc.contributor.authorKong, Augustineen
dc.contributor.authorKarasik, Daviden
dc.contributor.authorvan Meurs, Joyce Ben
dc.contributor.authorOostra, Benen
dc.contributor.authorPastinen, Tomien
dc.contributor.authorPols, Huibert A Pen
dc.contributor.authorSigurdsson, Gunnaren
dc.contributor.authorSoranzo, Nicoleen
dc.contributor.authorThorleifsson, Gudmaren
dc.contributor.authorThorsteinsdottir, Unnuren
dc.contributor.authorWilliams, Frances M Ken
dc.contributor.authorWilson, Scott Gen
dc.contributor.authorZhou, Yanhuaen
dc.contributor.authorRalston, Stuart Hen
dc.contributor.authorvan Duijn, Cornelia Men
dc.contributor.authorSpector, Timothyen
dc.contributor.authorKiel, Douglas Pen
dc.contributor.authorStefansson, Karien
dc.contributor.authorIoannidis, John P Aen
dc.contributor.authorUitterlinden, André Gen
dc.date.accessioned2009-11-19T14:53:12Z-
dc.date.available2009-11-19T14:53:12Z-
dc.date.issued2009-11-01-
dc.date.submitted2009-11-19-
dc.identifier.citationNat. Genet. 2009, 41(11):1199-206en
dc.identifier.issn1546-1718-
dc.identifier.pmid19801982-
dc.identifier.doi10.1038/ng.446-
dc.identifier.urihttp://hdl.handle.net/2336/86468-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractBone mineral density (BMD) is a heritable complex trait used in the clinical diagnosis of osteoporosis and the assessment of fracture risk. We performed meta-analysis of five genome-wide association studies of femoral neck and lumbar spine BMD in 19,195 subjects of Northern European descent. We identified 20 BMD loci that reached genome-wide significance (GWS; P < 5 x 10(-8)), of which 13 map to regions not previously associated with this trait: 1p31.3 (GPR177), 2p21 (SPTBN1), 3p22 (CTNNB1), 4q21.1 (MEPE), 5q14 (MEF2C), 7p14 (STARD3NL), 7q21.3 (FLJ42280), 11p11.2 (LRP4, ARHGAP1, F2), 11p14.1 (DCDC5), 11p15 (SOX6), 16q24 (FOXL1), 17q21 (HDAC5) and 17q12 (CRHR1). The meta-analysis also confirmed at GWS level seven known BMD loci on 1p36 (ZBTB40), 6q25 (ESR1), 8q24 (TNFRSF11B), 11q13.4 (LRP5), 12q13 (SP7), 13q14 (TNFSF11) and 18q21 (TNFRSF11A). The many SNPs associated with BMD map to genes in signaling pathways with relevance to bone metabolism and highlight the complex genetic architecture that underlies osteoporosis and variation in BMD.en
dc.language.isoenen
dc.publisherNature Pub. Co.en
dc.relation.urlhttp://dx.doi.org/10.1038/ng.446en
dc.subject.meshPubMed in Processen
dc.titleTwenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studiesen
dc.typeArticleen
dc.contributor.departmentDepartment of Internal Medicine, Rotterdam, The Netherlands.en
dc.identifier.journalNature geneticsen

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